Table 3 of Hilal, Mol Vis 2010; 16:1215-1226. Table 3 of Hilal, Mol Vis 2010; 16:1215-1226.
Table 3. CYP1B1 single nucleotide polymorphisms and mutations detected in 20 probands with primary congenital glaucoma.
Patient ID |
Mutation |
g.3947C>G (p.R48G) |
g.4160G/T (p.A119G) |
g.8131C>G (p.L432V) |
g.8195A>G (p.N453S) |
|---|---|---|---|---|---|
| PCG-3-III.3 | g.4339delG/g.4339delG | C/C | G/G | G/G | A/A |
| PCG-4-IV.3 | g.4339delG/g.4339delG | C/C | G/G | G/G | A/A |
| PCG-17-III.3 | g.4339delG/g.4339delG | C/G | G/G | G/G | A/A |
| PCG-25-IV.3 | g.4339delG/g.4339delG | C/G | G/G | G/G | A/A |
| PCG-1-II.5 | p.E173K/g.4339delG | C/G | G/G | G/G | A/A |
| PCG-28-II.2 | p.E173K/g.4339delG | C/C | G/G | G/G | A/A |
| PCG-64-III.1 | g.4330–4431delTG/g.4339delG | C/C | G/G | G/G | A/A |
| PCG-84-V.2 | g.4330–4431delTG/g.4330–4431delTG | C/C | G/G | G/G | A/A |
| PCG-95-III.2 | g.4339delG/g.7901-7913del | C/C | G/G | G/G | A/A |
| PCG-11-II.1 | g.4339delG/p.V364M | C/C | G/G | G/G | A/A |
| PCG-58-V.2 | g.79017913del/g.7901-7913del | C/C | G/G | G/G | A/A |
| PCG-79-III.3 | g.4339delG/p.G61E | C/G | G/G | G/G | A/A |
| PCG-47-II.3 | p.G61E/p.G61E | C/G | G/G | G/G | A/A |
| PCG-89-V.3 | p.G61E/p.G61E | C/G | G/G | G/G | A/A |
| PCG-97-II.3 | p.G61E/p.G61E | C/G | G/G | G/G | A/A |
| PCG-14-II.2 | p.R368H/w | C/C | G/G | C/G | A/G |
| PCG40-IV.6 | p.R390S/p.R390S | C/G | T/T | G/G | A/A |
| PCG-75-IV.1 | p.R469W/p. R469W | C/C | G/G | C/C | A/A |
| PCG-100-II.3 | p.C470Y/p.C470Y | C/G | G/T | C/C | A/A |
| PCG-101-III.3 | p.R163C/w | G/G | G/G | C/G | A/A |